Epidemiology

• Rare disorder
• Most cases are males

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Physiology

• X-Linked Inheritance (probably): mutations in genes encoding for telomere or telomerase have been found in 50% of cases
  • Telomere length is involved in cell division: shortened telomere length (due to aging or inherited abnormalities) leads to cell senescence

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Diagnosis

• CBC
  • Cytopenias
  • Aplastic anemia

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Clinical Presentations

• Interstitial Lung Disease (see [[Interstitial Lung Disease-Etiology]])
• Nail Dystrophy
• Skin Pigmentation
• Oral Leukoplakia

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Treatment

• Bone Marrow Transplantation: has been used

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Prognosis

• 11% die from pulmonary complications + 11% die from pulmonary complications of bone marrow transplant

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References

• xx